🧬 基因注释：CLCN7

官方名称：Cl-/H+ antiporter 7

功能摘要：The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008].

• HNRNPM 综合评分: 0.412 · 证据 2 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• RBM22 综合评分: 0.312 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• Srsf3 综合评分: 0.300 · 证据 1 条
• Rnps1 综合评分: 0.286 · 证据 1 条
• MBNL2 综合评分: 0.262 · 证据 1 条
• PCBP1 综合评分: 0.262 · 证据 2 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条

该基因暂无关联疾病记录